ClinVar Miner

Submissions for variant NC_000012.12:g.(?_51913954)_(51919135_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000640454 SCV000762045 pathogenic Telangiectasia, hereditary hemorrhagic, type 2 2018-04-08 criteria provided, single submitter clinical testing This variant is an out-of-frame deletion of the genomic region encompassing the last 34 nucleotides of exon 4 and  exons 5-9 of the ACVRL1 gene (c.492-c.1378-239). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ACVRL1-related disease. Loss-of-function variants in ACVRL1 are known to be pathogenic (PMID: 15879500). For these reasons, this variant has been classified as Pathogenic.

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